This is general information for educational purposes only. Please consult a qualified physician for diagnosis and treatment,

Shwachman Diamond Syndrome

Shwachman Diamond Syndrome (SDS) is an uncommon condition combining the symptoms of low white cell count (neutropenia; bone marrow failure), a decrease in the function of an organ in the body called the pancreas (exocrine pancreatic dysfunction) and abnormalities in the bones of the skeleton (metaphyseal dystosis). Although the bone marrow, pancreas and skeleton are the most common organs involved in SDS, other organs including the liver, kidneys, teeth, immune system and intellectual problems may also be seen in people with SDS.

In the last few years, SDS has been shown to be caused by a problem in a gene on chromosome number 7. Genes are in all the cells of our body and control how a cell works. Humans have 23 pairs of genes; one gene comes from each parent. Abnormalities in the gene number 7 have been shown to cause the symptoms of SDS in most cases. SDS is very uncommon with only a few hundred cases of SDS in the world. SDS is a very important condition because some people with SDS are prone to developing other serious problems in later life related to the bone marrow.

People with SDS may develop a condition called myelodysplasia where the bone marrow wears out prematurely or may even develop a form of bone marrow cancer (leukaemia). This complication may develop early in life but may occur much later and so it is important that people with SDS be monitored closely.

There is a large amount of medical information about SDS. It is best that this condition be discussed with your doctor. Various tests may need to be performed before the diagnosis of SDS can be made.

If you have any questions regarding SDS please feel free to make contact with SDS Australia through this website.